Variant position: 614 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 805 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human GDVFIEGLYDMHIQLQSVPF LHWEAPVTSHSLTAREVMSTP
Mouse GDVFIEGLYDMHIQLQSVPF LHWEAPVTSHSLTAREVMSTP
Rat GDVFIEGLYDMHIQLQSVPF LHWEAPVTSHSLTAREVMSTP
Bovine GDVFIEGLYDMHIQLQSVPF LHWEAPVTSHSLTAREVMSTP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 805 H(+)/Cl(-) exchange transporter 7
598 – 805 Cytoplasmic
602 – 602 Chloride
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Frattini A.; Pangrazio A.; Susani L.; Sobacchi C.; Mirolo M.; Abinun M.; Andolina M.; Flanagan A.; Horwitz E.M.; Mihci E.; Notarangelo L.D.; Ramenghi U.; Teti A.; Van Hove J.; Vujic D.; Young T.; Albertini A.; Orchard P.J.; Vezzoni P.; Villa A.;
J. Bone Miner. Res. 18:1740-1747(2003)
Cited for: VARIANTS OPTB4 ARG-240; ARG-249; VAL-332; TRP-526; PRO-614; PHE-744; GLN-767 AND TRP-767; VARIANTS OPTA2 ARG-215; GLN-286; PHE-490 AND VAL-677; VARIANT MET-418;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.